網膜色素変性症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)	PRPH2	Pathogenic/Likely pathogenic	6	42689615	42689615	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226236
single nucleotide variant	NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	PRPH2	Pathogenic/Likely pathogenic	6	42689604	42689604	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226238
single nucleotide variant	NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)	PRPH2	Pathogenic	6	42689579	42689579	C	T	criteria provided, single submitter	ClinGen:CA226240
single nucleotide variant	NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)	PRPH2	Pathogenic/Likely pathogenic	6	42689538	42689538	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226252
Deletion	NM_000322.5(PRPH2):c.578_579del (p.Lys193fs)	PRPH2	Pathogenic	6	42689494	42689495	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226258
single nucleotide variant	NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)	PRPH2	Pathogenic/Likely pathogenic	6	42672342	42672342	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226259
Deletion	NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)	PRPH2	Pathogenic	6	42672306	42672322	ACGCCGTCCACCAGGTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226263
single nucleotide variant	NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)	PRPH2	Pathogenic/Likely pathogenic	6	42672303	42672303	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226267
single nucleotide variant	NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)	PRPH2	Pathogenic	6	42672302	42672302	G	A	criteria provided, single submitter	ClinGen:CA226269
single nucleotide variant	NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)	PRPH2	Pathogenic	6	42672298	42672298	G	T	criteria provided, single submitter	ClinGen:CA226271